Interleukin-18 and interferon-gamma polymorphisms in Brazilian human immunodeficiency virus-1-infected patients presenting with lipodystrophy syndrome

Cytokines play important roles in the pathogenesis of lipodystrophy syndrome (LS). Single nucleotide polymorphisms (SNPs) at positions −607(C/A) and −137(C/G) in the promoter region of the interleukin‐18 (IL‐18) gene and at position +874(T/A) of the interferon‐gamma (IFN‐γ) gene are related to the expression of these cytokines. To examine whether IL‐18 and IFN‐γ polymorphisms are associated with LS, these SNPs were genotyped in 88 human immunodeficiency virus (HIV)‐infected patients presenting LS, 79 HIV‐infected without LS, and 133 healthy controls. The −607A allele, −607AA genotype, and −137G/–607A and −137C/–607A haplotypes in the IL‐18 gene were over‐represented in HIV patients presenting LS. The −137G/−607C haplotype was associated with protection against LS. These results indicate that the −607(C/A) SNP is associated with LS development in HIV‐infected patients.